Unusual case with WPW syndrome, LV hypertrophy and hearing impairment

30 Sep 2013

A 28 year old man was referred to our hospital for the diagnosis of Wolff-Parkinson-White syndrome because of several episodes of syncope and suspicious ECG findings. The patient has complained exercise intolerance, nausea, intensive vomiting 2-3 hours after meal, 2-3 times a week for 2 years. Additionally, he reported hearing impairment and difficulties in speech understanding. He noticed progressive, rapid hearing deterioration five years earlier, after a stressful event (his mother suddenly died presenting with neurological symptoms). He reported no tinnitus or vertigo. Family history revealed hearing problems in all maternal relatives: sister, mother, and sister of mother and grandmother. We observed also short stature (weight: 40 kg, BMI = 16,4 kg/m2). On admission, no signs of heart failure were detected. Electrocardiogram revealed (Figure 1) sinus rhythm 60/min with short PR interval, normal QRS complex (110ms in length) with slurred upstroke of the QRS complex and secondary repolarization changes reflected in ST segment-T wave changes.

Brain MRI revealed: features of cerebellum atrophy, mostly in the areas of the cerebellum hemispheres with cerebellum fissure and IV chamber dilation. There were no cortical or cortico-subcortical scars.

Molecular tests confirmed 3243 A>G mutation in mtDNA. Detection of 3243 A>G mutation was performed by RealTime allelic discrimination technique with TaqMan probes (Custom TaqMan® SNP Genotyping Assays Applied Biosystems). Analysis of a heteroplasmy level revealed presence of the mutation in each of the examined tissues: in blood leukocytes at the level of 24,1 %, in hair follicles of 43,4 %, in nails of 38,3 %, in buccal mucosa of 35,2 % and in urinary sediment of 91,8 %. The heteroplasmy level was estimated as a ratio between digested and sum of digested and undigested peak area. The level of the mutation in each tissue was relatively high.

Conclusion:

During 3 years of the follow up we have not observed the appearance of further essential neurological symptoms despite the fact that the presence of cardiomyopathy in MELAS syndrome worsens the prognosis. Acidosis as, a typical feature of MELAS, was observed only one time during infection. In our opinion, clinical presentation and examination strongly suggest that this case represents another form of MELAS phenotype resulting from the mutation at position 3243 of human mitochondrial DNA.Patient had cardioverter–defibrilator implanted due to heart wall hypertrophy (>30mm in diastole) and ventricular heart rhythm disturbances . He was referred for rehabilitation and he had coenzyme Q analogues, L-arginine and vitamin from antioxidative group prescribed.